PanelApp (test)
  1. Panels
  2. Microcephaly
Description
This panel was developed and is maintained by VCGS.

It contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.

This panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.
Panel Activity

7 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

19 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
BRD4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 6, MIM# 620568
Tags
  • SV/CNV
Green Green List (high evidence)
COX4I1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Tags
Green Green List (high evidence)
DNA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seckel syndrome 8, MIM#615807
Tags
Green Green List (high evidence)
HIST1H4C
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758
Tags
  • new gene name
Green Green List (high evidence)
HMGB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay and microcephaly, no OMIM #
Tags
Green Green List (high evidence)
KMT2E
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • O'Donnell-Luria-Rodan syndrome MIM#618512
Tags
Green Green List (high evidence)
NSRP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy
  • Cerebral palsy
  • microcephaly
  • Intellectual disability
Tags
Green Green List (high evidence)
PPP2R1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 36, MIM#616362
  • Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Tags
Green Green List (high evidence)
RAB3GAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 1, MIM# 600118
Tags
Green Green List (high evidence)
RAD21
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cornelia de Lange syndrome 4, MIM# 614701
Tags
Green Green List (high evidence)
RARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 6, MIM# 611523
Tags
Green Green List (high evidence)
SPATA5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome MIM#616577
Tags
  • new gene name
Green Green List (high evidence)
TAF2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual development disorder, autosomal recessive 40, MIM# 615599
Tags
Green Green List (high evidence)
TMEM222
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470
  • Intellectual disability
  • Epilepsy
  • Microcephaly
Tags
Green Green List (high evidence)
TTC5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244
  • Intellectual disability
  • microcephaly
Tags
Green Green List (high evidence)
TTI2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal recessive 39 (MIM#615541)
Tags
Green Green List (high evidence)
VPS50
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685
  • Neonatal cholestatic liver disease
  • Failure to thrive
  • Profound global developmental delay
  • Postnatal microcephaly
  • Seizures
  • Abnormality of the corpus callosum
Tags
Green Green List (high evidence)
WDFY3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly 18, primary, autosomal dominant, MIM#617520
Tags
Green Green List (high evidence)
WDR11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 78, MIM# 620237
  • Intellectual disability
  • Microcephaly
  • Short stature
Tags

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